ArticleThe Journal of investigative dermatology2002
Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28.
Article in The Journal of investigative dermatology, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 64 citations in OpenAlex.
- Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review.Clinical and experimental pediatrics · 2025Article
- Are the Cutaneous Microbiota a Guardian of the Skin's Physical Barrier? The Intricate Relationship between Skin Microbes and Barrier Integrity.International journal of molecular sciences · 2023Review
- Article
- Claudin-1 Mediated Tight Junction Dysfunction as a Contributor to Atopic March.Frontiers in immunology · 2022Article
- Multiscale modelling of claudin-based assemblies: A magnifying glass for novel structures of biological interfaces.Computational and structural biotechnology journal · 2022Review
- Novel CLDN1 Deletion Associated with Ichthyosis, Sclerosing Cholangitis and Acquired Alopecia.Acta dermato-venereologica · 2020Article
- Tight Junction Proteins and the Biology of Hepatobiliary Disease.International journal of molecular sciences · 2020Review
- Mouse Models of Human Claudin-Associated Disorders: Benefits and Limitations.International journal of molecular sciences · 2019Review
- Gene-Targeted Next-Generation Sequencing Identifies a Novel CLDN1 Mutation in a Consanguineous Family With NISCH Syndrome.The American journal of gastroenterology · 2017Article
- Regulation of intrahepatic biliary duct morphogenesis by Claudin 15-like b.Developmental biology · 2012Article
- Hair abnormalities in genetic disorders of junctions.International journal of trichology · 2009Article
- Concepts for the treatment of adolescent patients with missing permanent teeth.Oral and maxillofacial surgery · 2008Review
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Authors and funding
13 authors at 4 institutions in 2 countries.
Funding
Abstract
Ichthyosis is a heterogeneous group of skin disorders characterized by abnormal epidermal scaling. Occasionally, extracutaneous features are associated. A novel autosomal recessive ichthyosis syndrome is described here with scalp hypotrichosis, scarring alopecia, sclerosing cholangitis, and leukocyte vacuolization in two inbred kindreds of Moroccan origin. We also report the mapping of the diseased gene to a 21.2 cM interval of chromosome 3q27-q28. Homo zygosity for polymorphic markers has enabled us to reduce the genetic interval to a 16.2 cM region. Furthermore, comparison of mutant chromosomes in the two families has suggested a common ancestral mutant haplotype. This linkage disequilibrium has reduced the genetic interval encompassing the diseased gene to less than 9.5 cM maximum. Further study of additional families from the same geographic area will hopefully reduce the genetic interval as well as help in the cloning of the gene involved in this rare disorder.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.